CPT2D
MCID: MYP007
MIFTS: 26

Myopathy Due to Cpt Ii Deficiency (CPT2D) malady

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Myopathy Due to Cpt Ii Deficiency

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Aliases & Descriptions for Myopathy Due to Cpt Ii Deficiency:

Name: Myopathy Due to Cpt Ii Deficiency 52 12
Carnitine Palmitoyltransferase 2 Deficiency, Myopathic, Stress-Induced 70 27
Carnitine Palmitoyl Transferase Deficiency Type 2, Adult-Onset Form 54
Carnitine Palmitoyl Transferase Deficiency Type 2, Myopathic Form 54
Carnitine Palmitoyl Transferase Ii Deficiency, Adult-Onset Form 54
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form 54
Carnitine Palmitoyltransferase Ii Deficiency, Adult-Onset 70
Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset 52
Carnitine Palmitoyltransferase 2 Deficiency, Late-Onset 70
 
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic 70
Cpt Ii Deficiency, Myopathic 70
Cpt2 Deficiency, Late-Onset 70
Cptii, Adult-Onset Form 54
Cpt2, Adult-Onset Form 54
Cptii, Myopathic Form 54
Cpt2, Myopathic Form 54
Cpt2d 70

Characteristics:

Orphanet epidemiological data:

54
carnitine palmitoyl transferase deficiency type 2, adult-onset form:
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy

HPO:

64
myopathy due to cpt ii deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 255110
Orphanet54 ORPHA228302
ICD10 via Orphanet31 E71.3
MedGen37 C1833508
MeSH39 D008661

Summaries for Myopathy Due to Cpt Ii Deficiency

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UniProtKB/Swiss-Prot:70 Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced: An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are exacerbated by prolonged exercise, fasting, cold, or viral infection. CPT2DM affects most frequently children or young adults, and severity of attacks is highly variable. Myoglobinuria can cause kidney failure and death.

MalaCards based summary: Myopathy Due to Cpt Ii Deficiency, also known as carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced, is related to carnitine palmitoyltransferase ii deficiency, and has symptoms including muscle cramp, muscular stiffness and myalgia. An important gene associated with Myopathy Due to Cpt Ii Deficiency is CPT2 (Carnitine Palmitoyltransferase 2). Affiliated tissues include kidney.

OMIM:52 Carnitine palmitoyltransferase II deficiency is the most common inherited disorder of mitochondrial long-chain fatty... (255110) more...

Related Diseases for Myopathy Due to Cpt Ii Deficiency

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Diseases related to Myopathy Due to Cpt Ii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1carnitine palmitoyltransferase ii deficiency11.5

Symptoms & Phenotypes for Myopathy Due to Cpt Ii Deficiency

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Symptoms by clinical synopsis from OMIM:

255110

Clinical features from OMIM:

255110

Human phenotypes related to Myopathy Due to Cpt Ii Deficiency:

 54 64 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency64 54 Frequent (79-30%) HP:0000083
2 muscle weakness64 54 Very frequent (99-80%) HP:0001324
3 abnormality of the musculature54 Very frequent (99-80%)
4 myopathy64 54 Very frequent (99-80%) HP:0003198
5 elevated serum creatine phosphokinase64 54 Very frequent (99-80%) HP:0003236
6 myalgia64 54 Very frequent (99-80%) HP:0003326
7 fatigue64 54 Very frequent (99-80%) HP:0012378
8 myoglobinuria64 HP:0002913
9 rhabdomyolysis64 HP:0003201
10 muscle cramps64 HP:0003394
11 muscle stiffness64 HP:0003552

UMLS symptoms related to Myopathy Due to Cpt Ii Deficiency:


muscle cramp, muscular stiffness, myalgia

Drugs & Therapeutics for Myopathy Due to Cpt Ii Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myopathy Due to Cpt Ii Deficiency

Genetic Tests for Myopathy Due to Cpt Ii Deficiency

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Genetic tests related to Myopathy Due to Cpt Ii Deficiency:

id Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced27

Anatomical Context for Myopathy Due to Cpt Ii Deficiency

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MalaCards organs/tissues related to Myopathy Due to Cpt Ii Deficiency:

36
Kidney

Publications for Myopathy Due to Cpt Ii Deficiency

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Variations for Myopathy Due to Cpt Ii Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Myopathy Due to Cpt Ii Deficiency:

70 (show all 18)
id Symbol AA change Variation ID SNP ID
1CPT2p.Pro50HisVAR_001391rs28936674
2CPT2p.Ser113LeuVAR_001392rs74315294
3CPT2p.Glu174LysVAR_001393rs28936674
4CPT2p.Phe383TyrVAR_001396rs28936673
5CPT2p.Asp553AsnVAR_001397rs28936376
6CPT2p.Met214ThrVAR_007966rs515726174
7CPT2p.Pro227LeuVAR_007967rs74315298
8CPT2p.Phe448LeuVAR_007968rs74315297
9CPT2p.Tyr479PheVAR_007969rs749895856
10CPT2p.Arg503CysVAR_007970rs74315296
11CPT2p.Gly549AspVAR_007971rs186044004
12CPT2p.Arg151GlnVAR_020540rs515726177
13CPT2p.Tyr210AspVAR_020541
14CPT2p.Arg296GlnVAR_020542rs764849762
15CPT2p.Gln550ArgVAR_020543
16CPT2p.Gly600ArgVAR_020544
17CPT2p.Pro604SerVAR_020545
18CPT2p.Asp213GlyVAR_037976rs74315300

Clinvar genetic disease variations for Myopathy Due to Cpt Ii Deficiency:

5 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1CPT2NM_ 000098.2(CPT2): c.886C> T (p.Arg296Ter)SNVPathogenic/ Likely pathogenicrs727503887GRCh37Chr 1, 53676232: 53676232
2CPT2NM_ 000098.2(CPT2): c.370C> T (p.Arg124Ter)SNVPathogenic/ Likely pathogenicrs201065226GRCh37Chr 1, 53675716: 53675716
3CPT2NM_ 000098.2(CPT2): c.110_ 111dupGC (p.Ser38Alafs)duplicationLikely pathogenicrs1057517466GRCh38Chr 1, 53197053: 53197054
4CPT2NM_ 000098.2(CPT2): c.1774_ 1775delCT (p.Leu592Glufs)deletionLikely pathogenicrs767004984GRCh38Chr 1, 53213392: 53213393
5CPT2NM_ 000098.2(CPT2): c.1645+2T> GSNVLikely pathogenicrs1057517473GRCh38Chr 1, 53211321: 53211321
6CPT2NM_ 000098.2(CPT2): c.1545_ 1548delCTTT (p.Phe516Serfs)deletionLikely pathogenicrs1057517477GRCh38Chr 1, 53211219: 53211222
7CPT2NM_ 000098.2(CPT2): c.1345C> T (p.Gln449Ter)SNVLikely pathogenicrs1057517492GRCh38Chr 1, 53211019: 53211019
8CPT2NM_ 000098.2(CPT2): c.75delC (p.Ser26Alafs)deletionLikely pathogenicrs1057517493GRCh38Chr 1, 53197018: 53197018
9CPT2NM_ 000098.2(CPT2): c.95delG (p.Gly32Alafs)deletionLikely pathogenicrs1057517494GRCh38Chr 1, 53197038: 53197038
10CPT2NM_ 000098.2(CPT2): c.606T> A (p.Tyr202Ter)SNVLikely pathogenicrs755830520GRCh38Chr 1, 53210280: 53210280
11CPT2NM_ 000098.2(CPT2): c.1414C> T (p.Gln472Ter)SNVLikely pathogenicrs754386565GRCh37Chr 1, 53676760: 53676760
12CPT2NM_ 000098.2(CPT2): c.1359_ 1362delAGAA (p.Lys453Asnfs)deletionLikely pathogenicrs1057517507GRCh37Chr 1, 53676705: 53676708
13CPT2NM_ 000098.2(CPT2): c.54_ 72dup19 (p.Leu25Glyfs)duplicationLikely pathogenicrs1057517510GRCh38Chr 1, 53196997: 53197015
14CPT2NM_ 000098.2(CPT2): c.1046dupA (p.Asn349Lysfs)duplicationLikely pathogenicrs1057517515GRCh38Chr 1, 53210720: 53210720
15CPT2NM_ 000098.2(CPT2): c.1614C> A (p.Tyr538Ter)SNVLikely pathogenicrs1057517517GRCh38Chr 1, 53211288: 53211288
16CPT2NM_ 000098.2(CPT2): c.1345delCinsTA (p.Gln449Terfs)indelLikely pathogenicrs1057517525GRCh37Chr 1, 53676691: 53676691
17CPT2NM_ 000098.2(CPT2): c.1053G> A (p.Trp351Ter)SNVLikely pathogenicrs761438840GRCh38Chr 1, 53210727: 53210727
18CPT2NM_ 000098.2(CPT2): c.1891C> T (p.Arg631Cys)SNVPathogenicrs74315293GRCh37Chr 1, 53679181: 53679181
19CPT2NM_ 000098.2(CPT2): c.338C> T (p.Ser113Leu)SNVPathogenicrs74315294GRCh37Chr 1, 53668099: 53668099
20CPT2NM_ 000098.2(CPT2): c.149C> A (p.Pro50His)SNVPathogenicrs28936375GRCh37Chr 1, 53662764: 53662764
21CPT2NM_ 000098.2(CPT2): c.1657G> A (p.Asp553Asn)SNVPathogenicrs28936376GRCh37Chr 1, 53678947: 53678947
22CPT2NM_ 000098.2(CPT2): c.1883A> C (p.Tyr628Ser)SNVPathogenicrs28936673GRCh37Chr 1, 53679173: 53679173
23CPT2NM_ 000098.2(CPT2): c.1148T> A (p.Phe383Tyr)SNVPathogenic/ Likely pathogenicrs74315295GRCh37Chr 1, 53676494: 53676494
24CPT2NM_ 000098.2(CPT2): c.1507C> T (p.Arg503Cys)SNVPathogenicrs74315296GRCh37Chr 1, 53676853: 53676853
25CPT2NM_ 000098.2(CPT2): c.1360G> T (p.Glu454Ter)SNVPathogenicrs74315299GRCh37Chr 1, 53676706: 53676706
26CPT2NM_ 000098.2(CPT2): c.638A> G (p.Asp213Gly)SNVPathogenicrs74315300GRCh37Chr 1, 53675984: 53675984
27CPT2NM_ 000098.2(CPT2): c.359A> G (p.Tyr120Cys)SNVPathogenic/ Likely pathogenicrs121918528GRCh37Chr 1, 53675705: 53675705
28CPT2NM_ 000098.2(CPT2): c.1239_ 1240delGA (p.Lys414Thrfs)deletionPathogenicrs397509431GRCh37Chr 1, 53676585: 53676586

Expression for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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Search GEO for disease gene expression data for Myopathy Due to Cpt Ii Deficiency.

Pathways for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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GO Terms for genes affiliated with Myopathy Due to Cpt Ii Deficiency

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Sources for Myopathy Due to Cpt Ii Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet